Immunodeficiency

Question 1

what is primary immunodeficiency?

Answer 1

congenital-inherited as autosomal recessive genes

Question 2

what is secondary immune deficiency?

Answer 2

compromised by outside factors (cancer, immuno-suppression, HIV, malnutrition, stress, trauma, excessive exercise)

Question 3

what are some signs of a immunodeficiency disorder?

Answer 3

persistence, recurrent infections, poor response to treatment, delayed recovery, certain cancers and infections from things that do not usually cause infection

Question 4

recurrent bacterial infections is a sign of deficiency of:

Answer 4

B Cells

Question 5

intracellular, viral, bacterial, fungal, or protozoal infections could be due to a deficiency of:

Answer 5

T cells

Question 6

systemic infection with bacteria that are normally non infectious could be caused by a def in:

Answer 6

phagocytes

Question 7

bacterial infections and autoimmune disease can be caused by def in:

Answer 7

complement proteins

Question 8

a lack in leukocyte adhesion molecules could lead to

Answer 8

recurrent bacterial infections, impaired pus formation and impaired wound healing

Question 9

chart on 363

Answer 9

common immunodef

Question 10

what ca immunoelectrophoretic be used for?

Answer 10

absence or abnormal levels of antibody/immunoglobulin or complement proteins

Question 11

what is X linked agammaglobulima?

Answer 11

o Mutation in Bruton’s tyrosine kinase (Btk) gene that leads to a severe blockade of (at the pre-B cell development to immature B cell (85%, boys)
o No circulating B cells - All classes of Ig are absent
o Lack of cells with B cell marker CD19 and/or CD20

Question 12

what is Transient hypogammaglobulinemia?

Answer 12

o More likely to occur in premature babies
o Temporary - 5% of infants are symptomatic when younger than 6 months, 50% become
symptomatic at 6-12 months, and 25% become symptomatic when they are older than 12
months, increasing to the normal reference range by age 2-6 years

Question 13

what is Common variable hypogammaglobulinemia
characterized by?

Answer 13

o Low levels - decreased
o B cells fail to mature into plasma cells – has normal numbers of the cells that produce
antibodies (B-lymphocytes), but these cells fail to undergo normal maturation into plasma cells
o Variable – Some patients have a decrease in both IgG and IgA, whereas others have a decrease
in all three major types of immunoglobulins (IgG, IgA, and IgM)

Question 14

what is the most common Selective immunoglobulin deficiency?

Answer 14

IgA

Question 15

what immuno effect happens due to IgA deficiency?

Answer 15

–Decreased immune function in the mucosal surfaces in the mouth, gastrointestinal tract (stomach and intestines), and lungs.

–This deficiency results in an increased risk for respiratory and gastrointestinal infections.

Question 16

what are clinical symptoms of IgA deficiency?

Answer 16

-family history of IgA deficiency
-mouth infections
-frequent respiratory infections
-unexplained asthma or bronchitis
-chronic diarrhea

Question 17

what is the treatment for IgA deficency?

Answer 17

• Antibiotics and anti-inflammatories.
• Intravenous immunoglobulin (IVIG) not recommended - increased risk of life-threatening allergic reactions, or anaphylaxis, when they receive blood products containing some IgA.

Question 18

what does lack of a precipitant line on a serum immunoelectrophoretic test?

Answer 18

deficncy of what is being tested

Question 19

what is congenital thymic aplasia (DiGeorge)

Answer 19

• Thymus abnormal – Poor T cell development
• Parathyroid abnormal - blood calcium is low in routine blood tests
• Infant may be “jittery” or have seizures (convulsions) due to the low
  calcium.
• High incidence of autoimmunity

Question 20

Chronic mucocutaneous candidiasis is an example of what type of disease?

Answer 20

T lymphocyte disorder

Question 21

what is Ataxia telangiectasia?

Answer 21

Autosomal recessive chromosomal breakage disorder of the ATM (ataxia telangiectasia mutated) protein, an essential enzyme for DNA repair
o Progressive decline of motor neurologic functions

Question 22

what is Severe combined deficiencies disease
(SCID)?

Answer 22

bubble boy syndrome
* Severe deficiencies in both T-cell and B-cell functions.
* Defects lead to extreme susceptibility to severe infections

Question 23

what are the two main causes of SCID?

Answer 23

• Adenosine Deaminase (50%)
• Recombinase activating genes 1 and 2 (RAG1 and RAG2) deficiency

Question 24

what are signs of SCIDs in infants

Answer 24

severe infections
susceptible to vaccines
fungal infections
persistent diarrhea
severe weight loss
rashes (mothers T cells against baby tissues)

Question 25

what is the most successful treatment for SCIDs?

Answer 25

bone marrow transplantation

Question 26

what is chediak higashi syndrome

Answer 26

• Adenosine Deaminase (50%)
• Recombinase activating genes 1 and 2 (RAG1 and RAG2) deficiency

Question 27

what are the symptoms of chediak higashi syndrome?

Answer 27

partial albinism
platelet dysfunction
aggressive periodontitis

Question 28

what is chronic granulomatous disease?

Answer 28

The body’s phagocytic cells are unable to make hydrogen peroxide and other oxidants needed to kill certain microorganisms.

-Patients susceptible to infections with bacteria and fungi that usually are of low virulence

Question 29

what are the symptoms of chronic granulomatous disease?

Answer 29

in infancy recurrent unusual infection
prolonged drainage

Question 30

what are some complications of deficiency in complement cascades?

Answer 30

 Increased susceptibility to bacterial infections and
autoimmune diseases
 Failure to clear immune complex and causes
symptoms that resemble lupus (SLE)
 Deficiencies of C5, C6, C7, C8, or C9, late-acting
complement proteins involved in forming holes in
membranes.
–edema